108 results on '"Bratkovic, Drago"'
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2. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
3. Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1
4. PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study
5. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
6. Fabry‐specific treatment in Australia: time to align eligibility criteria with international best practices.
7. Open‐label, single‐center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I.
8. Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL
9. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
10. Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II”
11. Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study
12. Liver transplantation for acute-on-chronic liver failure due to carnitine palmitoyl transferase (CPT) 1A deficiency.
13. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
14. PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA
15. P021: Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory and non-ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
16. P016: Results of an open-label, single-center, clinical study evaluating the safety and tolerability of pentosan polysulfate sodium in mucopolysaccharidosis I subjects
17. Biallelic IARS2 mutations presenting as sideroblastic anemia
18. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
19. Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.
20. Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy
21. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review
22. A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency.
23. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
24. Short Stature due to 15q26 Microdeletion Involving IGF1R: Report of an Additional Case and Review of the Literature
25. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
26. Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening
27. 61 - Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial
28. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
29. OP58 Challenges In Maintaining Up To Date Health Technology Assessments in Rare Diseases: Lessons From Fabry Disease In Australia.
30. Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
31. Serial fatty acid profiles in a preterm infant with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency.
32. Preliminary patient-reported outcomes and safety of advanced and targeted acid α-glucosidase (AT-GAA (ATB200/AT2221) in patients with Pompe disease from the ATB200-02 trial.
33. Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria.
34. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
35. 22. 15 years of Niemann Pick C in Australia.
36. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
37. Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
38. FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
39. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
40. First-in-human study of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in patients with Pompe disease: preliminary functional assessment results from the ATB200-02 trial.
41. Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
42. Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02).
43. eP222 - Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis II: evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT.
44. eP216 - Intrathecal idursulfase-IT safety and efficacy in patients with neuronopathic mucopolysaccharidosis II: phase 2/3 extension study 3-year results.
45. Long-term safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis type II: 2-year results from a phase 2/3 extension study.
46. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
47. OP096 - Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension.
48. Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial.
49. Single-arm, open-label, phase 2/3 substudy and extension evaluating safety and efficacy of intrathecal idursulfase-IT in patients younger than 3 years old with neuronopathic mucopolysaccharidosis type II.
50. Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT.
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